Canonical Allele Identifier: CA352126093

Gene: ACVR2B

Linked Data

• MyVariant Identifiers: chr3:g.38518829A>T (hg19) ; chr3:g.38477338A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38477338A>T , CM000665.2:g.38477338A>T	GRCh38
NC_000003.11:g.38518829A>T , CM000665.1:g.38518829A>T	GRCh37
NC_000003.10:g.38493833A>T	NCBI36
NG_011791.1:g.28040A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352511.5:c.104A>T MANE Select	ENSP00000340361.3:p.Asn35Ile
ENST00000352511.4:c.104A>T	ENSP00000340361.3:p.Asn35Ile
ENST00000461232.1:n.3893A>T
ENST00000465020.5:n.108A>T
NM_001106.3:c.104A>T	NP_001097.2:p.Asn35Ile
XM_005265583.2:c.167A>T	XP_005265640.1:p.Asn56Ile
XM_005265583.3:c.167A>T	XP_005265640.1:p.Asn56Ile
XM_017007514.1:c.146A>T	XP_016863003.1:p.Asn49Ile
XM_017007515.2:c.122A>T	XP_016863004.1:p.Asn41Ile
XM_017007516.1:c.101A>T	XP_016863005.1:p.Asn34Ile
NM_001106.4:c.104A>T MANE Select	NP_001097.2:p.Asn35Ile